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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cep290 and kidney disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Fleming LR, etal., Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Fleming LR, etal., Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.
  • 2258 RGD objects have been annotated to kidney disease  (DOID:557)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: associated with Joubert syndrome 5;DNA:nonsense mutations, frameshift mutations:CDS:multiple (human)


    • An association has been curated linking Cep290 and kidney disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2258 RGD objects have been annotated to kidney disease  (DOID:557)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease
  • Original References(s): PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31970223 PMID:32856788 PMID:33502066 PMID:33574314 PMID:33970760


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